Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic Options.

IF 1.5 4区医学 Q4 GENETICS & HEREDITY

Molecular Genetics & Genomic Medicine Pub Date : 2025-07-01 DOI:10.1002/mgg3.70119

Adelaide Ballerini, Francesca Girolami, Alessia Gozzini, Silvia Passantino, Mattia Zampieri, Alberto Marchi, Alessia Tomberli, Giovanni B Calabri, Gaia Spaziani, Giulio Porcedda, Elena Bennati, Silvia Favilli, Iacopo Olivotto

引用次数: 0

Abstract

Pediatric cardiomyopathies are rare, heterogeneous, and challenging conditions, often with a genetic etiology. We estimated the yield of genetic testing in a pediatric cohort with cardiomyopathies and evaluated the potential candidacy to current or emerging treatments based on genetic results. Over one-third had a conclusive genetic test, including 25% of potential candidates for emerging precision therapies or developing pharmacological options.

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儿童心肌病基因检测的产量：对新的治疗选择的意义。

小儿心肌病是罕见的，异质性和挑战性的条件，往往与遗传病因。我们估计了心肌病儿童队列基因检测的产量，并根据遗传结果评估了当前或新兴治疗方法的潜在候选性。超过三分之一的人进行了结论性基因测试，其中包括25%的潜在候选人，用于新兴的精确疗法或开发药物选择。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.